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rs28933973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28933973(C;T)
Make rs28933973(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position70599048
GenePRF1
is asnp
is mentioned by
dbSNPrs28933973
ebirs28933973
HLIrs28933973
Exacrs28933973
Varsomers28933973
Maprs28933973
PheGenIrs28933973
hapmaprs28933973
1000 genomesrs28933973
hgdprs28933973
ensemblrs28933973
gopubmedrs28933973
geneviewrs28933973
scholarrs28933973
googlers28933973
pharmgkbrs28933973
gwascentralrs28933973
openSNPrs28933973
23andMers28933973
23andMe allrs28933973
SNP Nexus

SNPshotrs28933973
SNPdbers28933973
MSV3drs28933973
GWAS Ctlgrs28933973
Max Magnitude0
OMIM170280
DescHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Variant0004
Relatedalso
Neighborrs28933375
Distance82
ClinVar
Risk rs28933973(T;T)
Alt rs28933973(T;T)
Reference rs28933973(C;C)
Significance Pathogenic
Disease Hemophagocytic lymphohistiocytosis
Variation info
Gene PRF1
CLNDBN Hemophagocytic lymphohistiocytosis, familial, 2
Reversed 1
HGVS NC_000010.10:g.72358804G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014711.21,